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FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Post-mortem rapid aneuploidy testing for holoprosencephaly.

Lajos Gergely¹, Vanda Repiská¹, Daniel Böhmer¹

¹Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovakia.

Birth Defects Research

|April 18, 2024

Summary

Quantitative fluorescence polymerase chain reaction (QF-PCR) offers a superior and efficient method for post-mortem genetic evaluation of holoprosencephaly cases compared to conventional karyotyping.

Keywords:

DNA analysis QF‐PCR abortion aneuploidy holoprosencephaly intrauterine fetal demise

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

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Published on: August 25, 2019

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Area of Science:

Medical Genetics
Developmental Biology
Reproductive Medicine

Background:

Holoprosencephaly frequently leads to fetal death, necessitating post-mortem genetic analysis.
Conventional karyotyping of fibroblasts has limited success due to culture failures in these cases.
Archived frozen samples offer an alternative for genetic evaluation.

Purpose of the Study:

To reevaluate archived holoprosencephaly cases using quantitative fluorescence polymerase chain reaction (QF-PCR).
To assess the efficiency and diagnostic yield of QF-PCR for post-mortem genetic analysis.
To compare QF-PCR with conventional karyotyping in this setting.

Main Methods:

DNA was isolated from archived frozen chorionic villi in seven holoprosencephaly cases.
Quantitative fluorescence polymerase chain reaction (QF-PCR) was used to test for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y.
Results were compared with conventional karyotyping outcomes.

Main Results:

QF-PCR was successful in all seven cases (100% success rate).
A diagnostic yield of 71% was achieved, identifying trisomy 13 (2 cases), triploidy (2 cases), and trisomy 18 (1 case).
QF-PCR demonstrated a significantly higher success rate (100%) compared to conventional karyotyping (43%).

Conclusions:

Rapid aneuploidy testing via QF-PCR is a simple and reliable method for post-mortem genetic investigations.
QF-PCR is time- and cost-effective, providing sufficient diagnostic information in most holoprosencephaly cases.
This technique overcomes the limitations of conventional karyotyping in challenging post-mortem samples.